Bonnevie-Ullrich Syndrome

Preferred Label : Bonnevie-Ullrich Syndrome;

NCIt definition : A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.;

Détails

Origin ID

C34434;

UMLS CUI

C1527168;

Automatic exact mappings (from CISMeF team)
- Turner syndrome [DO Concept]
- Turner syndrome (disorder) [SNOMED CT concept]
- turner syndrome [MeSH Descriptor]
- turner syndrome, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Bonnevie-Ullrich syndrome [MeSH concept]
- Bonnevie-Ullrich syndrome [MedDRA LLT]
DO Cross reference
- Turner syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bonnevie-Ullrich syndrome [MedDRA LLT]
- Bonnevie-Ullrich syndrome [MeSH concept]
disease_has_molecular_abnormality
- Monosomy X [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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